28 citations
,
April 2014 in “Hormones” This study found that increased serum A4A levels were associated with more severe polycystic ovary syndrome phenotypes and could be a useful marker for biochemical hyperandrogenemia.
19 citations
,
July 2015 in “Journal of inherited metabolic disease” This study observed that while betaine supplementation decreases total homocysteine and increases methionine levels in a mouse model of CBS deficiency, it is not as effective as methionine restriction in reversing associated phenotypes.
17 citations
,
February 2015 in “Cell Death and Disease” This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.
7 citations
,
January 2025 in “Archives of Gynecology and Obstetrics” In this review, the authors aim to improve the differential diagnosis between hyperandrogenic PCOS and NCAH, which could lead to more personalized treatment strategies for patients experiencing hyperandrogenism.
4 citations
,
February 2025 in “GeroScience” This study found that restoring hypothalamic NPY levels in mice delayed aging-related characteristics such as fat loss, hair loss, and memory decline, suggesting that maintaining these levels could be important for counteracting aging and its effects.
February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This study found that women with PCOS had a higher prevalence of hypothyroidism compared to those without PCOS, especially among the obese PCOS subgroup.
This study found considerable variation in hair shaft proteomic profiles among Caucasian, African-American, Kenyan, and Korean subjects, with individual and site-specific differences observed.
This study used proteomic profiling to reveal significant individual and site-specific differences in human hair shaft proteins, which may improve the differentiation of hair based on ethnic origin and individual identity.
7 citations
,
October 2012 in “S. Karger AG eBooks” This review discusses the similarities in clinical, endocrine, and ultrasonographic features between PCOS and other disorders with excessive androgen secretion, emphasizing the importance of accurate diagnosis but reports no new clinical results.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
50 citations
,
January 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found that miRNA expression profiles in follicular fluid are altered in women with PCOS, with certain miRNAs potentially useful for distinguishing patient subtypes and contributing to understanding PCOS heterogeneity.
7 citations
,
March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
8 citations
,
October 2010 in “Scandinavian Journal of Clinical & Laboratory Investigation” This study found that normal ALT levels in women of reproductive age are linked with metabolic and androgenic abnormalities, suggesting ALT could be used beyond liver disease diagnoses.
June 2003 in “Obstetrical & Gynecological Survey” This study observed that the size of vaginal prolapse in patients was significantly related to both the preoperative vaginal length and the length of vaginal excision during the Michigan four-wall sacrospinous suspension procedure.
688 citations
,
June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
9 citations
,
November 2015 in “Gynecological Endocrinology” This study found that among different subtypes of PCOS based on Rotterdam criteria, group A showed higher androgen levels and hirsutism, while all subtypes had increased LH and LH/FSH compared to controls.
14 citations
,
March 1995 in “Journal of cell science” This study found that targeting SV40 T antigen expression to hair follicles in transgenic mice caused abnormal hair structure and hair loss, but did not lead to cell immortalization or tumor formation in follicles.
13 citations
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
54 citations
,
November 2017 in “Scientific Reports” In this study, researchers observed that hyperandrogenic PCOS patients exhibited distinct miRNA and TGFβ signaling gene expression patterns in granulosa cells, suggesting these factors may play a role in PCOS pathogenesis.
48 citations
,
February 2008 in “Nutrition in Clinical Practice” This article reviews dietary recommendations for managing polycystic ovary syndrome and provides evidence that diet changes can improve the androgen profile in affected women, but it reports no new clinical results.
19 citations
,
April 2020 in “Psychological Medicine” This study identified three symptom trajectory groups in individuals with PMDD, highlighting variations in symptom severity and duration across the luteal and follicular phases.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
11 citations
,
December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
21 citations
,
December 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that T-cell responses in extensive alopecia areata scalp may be aberrantly regulated, with reduced cytokine production but activated phenotype, providing insight into the disease's immune mechanisms.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
April 2015 in “Dentistry 3000” This article explores the causes and associated syndromes of premature hair hypopigmentation, emphasizing a need for better understanding to guide individual patient education and treatment.
5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
1 citations
,
August 2022 in “Frontiers in Medicine” This study concluded that ALRV5XR treatment significantly increased terminal hair density in both men and women with androgenetic alopecia and telogen effluvium, with more pronounced effects in women.